Incidental Mutation 'R7790:Ckap5'
ID 599780
Institutional Source Beutler Lab
Gene Symbol Ckap5
Ensembl Gene ENSMUSG00000040549
Gene Name cytoskeleton associated protein 5
Synonyms D730027C18Rik, 4930432B04Rik, 3110043H24Rik
MMRRC Submission 045846-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7790 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 91357107-91451009 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 91389455 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 309 (N309S)
Ref Sequence ENSEMBL: ENSMUSP00000097303 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046769] [ENSMUST00000099716] [ENSMUST00000111337] [ENSMUST00000111338]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000046769
AA Change: N309S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000046263
Gene: ENSMUSG00000040549
AA Change: N309S

DomainStartEndE-ValueType
TOG 1 227 9.27e-53 SMART
low complexity region 234 261 N/A INTRINSIC
TOG 269 506 1.36e-77 SMART
low complexity region 537 551 N/A INTRINSIC
TOG 586 818 1.29e-69 SMART
low complexity region 833 845 N/A INTRINSIC
TOG 850 1082 3.27e-71 SMART
TOG 1191 1429 3.32e-63 SMART
low complexity region 1685 1698 N/A INTRINSIC
low complexity region 1759 1771 N/A INTRINSIC
low complexity region 1981 1994 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099716
AA Change: N309S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097303
Gene: ENSMUSG00000040549
AA Change: N309S

DomainStartEndE-ValueType
TOG 1 227 9.27e-53 SMART
low complexity region 234 261 N/A INTRINSIC
TOG 269 506 1.36e-77 SMART
low complexity region 537 551 N/A INTRINSIC
TOG 586 818 1.29e-69 SMART
low complexity region 833 845 N/A INTRINSIC
TOG 850 1082 3.27e-71 SMART
TOG 1191 1429 3.32e-63 SMART
low complexity region 1685 1698 N/A INTRINSIC
low complexity region 1759 1771 N/A INTRINSIC
low complexity region 1909 1921 N/A INTRINSIC
low complexity region 2002 2015 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000111337
AA Change: N309S

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106969
Gene: ENSMUSG00000040549
AA Change: N309S

DomainStartEndE-ValueType
TOG 1 227 9.27e-53 SMART
low complexity region 234 261 N/A INTRINSIC
TOG 269 506 1.36e-77 SMART
low complexity region 537 551 N/A INTRINSIC
TOG 586 818 1.29e-69 SMART
low complexity region 833 845 N/A INTRINSIC
TOG 850 1082 3.27e-71 SMART
TOG 1191 1429 3.32e-63 SMART
low complexity region 1625 1638 N/A INTRINSIC
low complexity region 1699 1711 N/A INTRINSIC
low complexity region 1849 1861 N/A INTRINSIC
low complexity region 1942 1955 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111338
AA Change: N309S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106970
Gene: ENSMUSG00000040549
AA Change: N309S

DomainStartEndE-ValueType
TOG 1 227 9.27e-53 SMART
low complexity region 234 261 N/A INTRINSIC
TOG 269 506 1.36e-77 SMART
low complexity region 537 551 N/A INTRINSIC
TOG 586 818 1.29e-69 SMART
low complexity region 833 845 N/A INTRINSIC
TOG 850 1082 3.27e-71 SMART
TOG 1191 1429 3.32e-63 SMART
low complexity region 1685 1698 N/A INTRINSIC
low complexity region 1759 1771 N/A INTRINSIC
low complexity region 1909 1921 N/A INTRINSIC
low complexity region 2002 2015 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (81/81)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoskeleton-associated protein which belongs to the TOG/XMAP215 family. The N-terminal half of this protein contains a microtubule-binding domain and the C-terminal half contains a KXGS motif for binding tubulin dimers. This protein has two distinct roles in spindle formation; it protects kinetochore microtubules from depolymerization and plays an essential role in centrosomal microtubule assembly. This protein may be necessary for the proper interaction of microtubules with the cell cortex for directional cell movement. It also plays a role in translation of the myelin basic protein (MBP) mRNA by interacting with heterogeneous nuclear ribonucleoprotein (hnRNP) A2, which associates with MBP. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit decreased body size and cleft palate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik A T 4: 39,451,201 (GRCm39) I136F possibly damaging Het
Abca13 A T 11: 9,247,915 (GRCm39) K2554M probably damaging Het
Ankrd12 C T 17: 66,291,225 (GRCm39) D1403N possibly damaging Het
Ankrd17 A G 5: 90,408,011 (GRCm39) V1402A possibly damaging Het
Ankrd36 A T 11: 5,585,176 (GRCm39) N329I possibly damaging Het
Atr A T 9: 95,756,233 (GRCm39) D815V probably damaging Het
C9orf72 T C 4: 35,192,997 (GRCm39) D444G unknown Het
Ceacam1 T C 7: 25,173,375 (GRCm39) Y271C probably damaging Het
Cenpo T C 12: 4,264,597 (GRCm39) H265R probably benign Het
Chd8 G A 14: 52,463,539 (GRCm39) R702W probably damaging Het
Cxxc1 C T 18: 74,350,855 (GRCm39) R83C probably damaging Het
Dcaf6 T C 1: 165,227,284 (GRCm39) D281G probably damaging Het
Dennd4c A G 4: 86,717,754 (GRCm39) T584A probably damaging Het
Drgx T A 14: 32,350,845 (GRCm39) L227Q probably damaging Het
Dync2h1 G T 9: 7,114,914 (GRCm39) H2415N probably damaging Het
Dzip1l A G 9: 99,543,015 (GRCm39) E490G possibly damaging Het
Fam124a T C 14: 62,843,526 (GRCm39) S345P probably benign Het
Fam83b G A 9: 76,399,330 (GRCm39) T591I probably benign Het
Frem1 T C 4: 82,907,401 (GRCm39) S838G probably benign Het
Fsip2 G T 2: 82,818,723 (GRCm39) D4819Y probably benign Het
Gm43302 T G 5: 105,425,691 (GRCm39) K246T probably benign Het
Gml T C 15: 74,685,462 (GRCm39) probably benign Het
Gpc1 A T 1: 92,781,171 (GRCm39) H90L probably benign Het
Grik3 T C 4: 125,579,812 (GRCm39) L519P probably damaging Het
Grwd1 A G 7: 45,475,438 (GRCm39) V368A probably damaging Het
Gstm3 G A 3: 107,876,555 (GRCm39) probably benign Het
Gtpbp6 A G 5: 110,252,252 (GRCm39) S427P probably damaging Het
Heatr5b C T 17: 79,126,252 (GRCm39) G560E probably damaging Het
Heatr9 A G 11: 83,409,019 (GRCm39) V176A probably damaging Het
Hsf2bp A G 17: 32,253,453 (GRCm39) V5A probably benign Het
Ints3 G T 3: 90,307,720 (GRCm39) Q660K probably benign Het
Itpr2 A T 6: 146,126,274 (GRCm39) L2048Q probably damaging Het
Kcnq1 G A 7: 142,660,342 (GRCm39) probably null Het
Lsm12 A T 11: 102,055,995 (GRCm39) probably null Het
Mcoln3 A G 3: 145,845,247 (GRCm39) Y481C probably damaging Het
Meis3 A G 7: 15,916,322 (GRCm39) N266D probably benign Het
Mgat5 G A 1: 127,339,941 (GRCm39) E441K probably benign Het
Mroh6 C T 15: 75,756,089 (GRCm39) R689H probably benign Het
Mtg1 T C 7: 139,729,662 (GRCm39) Y251H probably damaging Het
Mtus2 A T 5: 148,014,998 (GRCm39) Q597L probably benign Het
Myt1 A G 2: 181,439,390 (GRCm39) E346G probably benign Het
Nat8f4 A G 6: 85,877,873 (GRCm39) S217P probably benign Het
Ngf G A 3: 102,417,140 (GRCm39) G17R unknown Het
Or7e171-ps1 A T 9: 19,852,980 (GRCm39) M252K unknown Het
Pam T C 1: 97,749,572 (GRCm39) Y968C probably damaging Het
Pcdhga7 T A 18: 37,847,996 (GRCm39) M1K probably null Het
Pde8b G T 13: 95,170,679 (GRCm39) D554E probably benign Het
Pdzd7 G A 19: 45,033,962 (GRCm39) R41* probably null Het
Pkhd1l1 C T 15: 44,441,977 (GRCm39) P3639S probably damaging Het
Plce1 A T 19: 38,769,140 (GRCm39) E2280V probably damaging Het
Ryr1 T C 7: 28,804,257 (GRCm39) I538V probably benign Het
Scaf11 A G 15: 96,316,942 (GRCm39) L874P possibly damaging Het
Scpep1 G T 11: 88,824,347 (GRCm39) D307E possibly damaging Het
Septin4 A G 11: 87,480,065 (GRCm39) E327G probably damaging Het
Skint2 T G 4: 112,473,751 (GRCm39) V11G possibly damaging Het
Slc26a4 T C 12: 31,594,482 (GRCm39) N289D probably damaging Het
Slc35f3 CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC 8: 127,115,777 (GRCm39) probably benign Het
Slx4 T C 16: 3,804,846 (GRCm39) E656G probably benign Het
Socs5 T C 17: 87,441,791 (GRCm39) S244P probably benign Het
Spata31h1 C T 10: 82,123,329 (GRCm39) C3227Y probably benign Het
Speer1e C A 5: 11,234,185 (GRCm39) H30Q probably benign Het
Stt3b A C 9: 115,105,887 (GRCm39) L196R probably damaging Het
Syne2 T A 12: 75,975,877 (GRCm39) probably null Het
Tab2 T A 10: 7,796,188 (GRCm39) N24I probably damaging Het
Taf4b T C 18: 14,946,331 (GRCm39) S385P probably damaging Het
Tg T C 15: 66,721,453 (GRCm39) Y2720H probably damaging Het
Tjap1 C T 17: 46,569,616 (GRCm39) G448E probably benign Het
Tll1 A T 8: 64,478,271 (GRCm39) C827* probably null Het
Tlr11 T A 14: 50,599,382 (GRCm39) I456K probably benign Het
Tmem209 T C 6: 30,497,854 (GRCm39) D305G probably damaging Het
Tmem82 A T 4: 141,345,035 (GRCm39) probably null Het
Tnfrsf14 A G 4: 155,007,750 (GRCm39) V207A probably benign Het
Tnks A T 8: 35,328,694 (GRCm39) N625K probably benign Het
Tomm20 G A 8: 127,666,700 (GRCm39) P58S possibly damaging Het
Ttc9b A G 7: 27,353,761 (GRCm39) D137G probably benign Het
Ulk4 C T 9: 121,092,734 (GRCm39) E168K possibly damaging Het
Usp9y T A Y: 1,444,573 (GRCm39) D122V probably damaging Het
Vps41 C A 13: 19,026,438 (GRCm39) T512K possibly damaging Het
Wdr49 T A 3: 75,182,335 (GRCm39) N698I probably benign Het
Zfp568 G A 7: 29,722,150 (GRCm39) C365Y probably damaging Het
Zfp663 A T 2: 165,194,453 (GRCm39) C589S probably damaging Het
Zfp971 A G 2: 177,675,292 (GRCm39) K297R probably damaging Het
Zkscan16 G T 4: 58,951,843 (GRCm39) E173* probably null Het
Other mutations in Ckap5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00508:Ckap5 APN 2 91,436,601 (GRCm39) missense probably damaging 1.00
IGL00566:Ckap5 APN 2 91,398,972 (GRCm39) splice site probably benign
IGL00585:Ckap5 APN 2 91,450,170 (GRCm39) missense probably damaging 1.00
IGL00910:Ckap5 APN 2 91,406,395 (GRCm39) missense probably benign 0.32
IGL01309:Ckap5 APN 2 91,400,529 (GRCm39) missense probably damaging 0.99
IGL01411:Ckap5 APN 2 91,431,356 (GRCm39) missense probably benign 0.26
IGL01654:Ckap5 APN 2 91,407,954 (GRCm39) missense probably benign 0.26
IGL01684:Ckap5 APN 2 91,385,699 (GRCm39) missense probably benign 0.06
IGL02031:Ckap5 APN 2 91,443,117 (GRCm39) missense possibly damaging 0.85
IGL02057:Ckap5 APN 2 91,431,052 (GRCm39) missense possibly damaging 0.91
IGL02101:Ckap5 APN 2 91,402,885 (GRCm39) splice site probably benign
IGL02250:Ckap5 APN 2 91,379,246 (GRCm39) missense probably damaging 1.00
IGL02556:Ckap5 APN 2 91,425,186 (GRCm39) splice site probably benign
IGL02620:Ckap5 APN 2 91,436,714 (GRCm39) missense probably benign 0.01
IGL02627:Ckap5 APN 2 91,406,366 (GRCm39) missense probably damaging 1.00
IGL02693:Ckap5 APN 2 91,400,556 (GRCm39) missense probably damaging 1.00
IGL02808:Ckap5 APN 2 91,426,859 (GRCm39) missense probably damaging 1.00
IGL03086:Ckap5 APN 2 91,400,621 (GRCm39) splice site probably benign
Elephantine UTSW 2 91,406,614 (GRCm39) missense probably damaging 1.00
hardiness UTSW 2 91,445,445 (GRCm39) missense possibly damaging 0.68
total UTSW 2 91,400,597 (GRCm39) missense probably damaging 0.99
K7371:Ckap5 UTSW 2 91,425,868 (GRCm39) splice site probably benign
R0106:Ckap5 UTSW 2 91,446,185 (GRCm39) missense probably damaging 1.00
R0106:Ckap5 UTSW 2 91,408,550 (GRCm39) missense possibly damaging 0.90
R0114:Ckap5 UTSW 2 91,450,457 (GRCm39) missense possibly damaging 0.86
R0464:Ckap5 UTSW 2 91,409,858 (GRCm39) missense probably benign 0.00
R0633:Ckap5 UTSW 2 91,381,088 (GRCm39) missense probably damaging 0.96
R0723:Ckap5 UTSW 2 91,385,676 (GRCm39) missense probably damaging 0.99
R1037:Ckap5 UTSW 2 91,380,974 (GRCm39) missense probably benign 0.00
R1139:Ckap5 UTSW 2 91,411,488 (GRCm39) missense probably benign 0.11
R1161:Ckap5 UTSW 2 91,429,720 (GRCm39) missense probably null 1.00
R1183:Ckap5 UTSW 2 91,416,611 (GRCm39) missense probably benign 0.01
R1660:Ckap5 UTSW 2 91,393,303 (GRCm39) missense possibly damaging 0.92
R1850:Ckap5 UTSW 2 91,426,058 (GRCm39) missense probably damaging 1.00
R1951:Ckap5 UTSW 2 91,386,837 (GRCm39) splice site probably benign
R1968:Ckap5 UTSW 2 91,416,688 (GRCm39) missense probably benign 0.10
R2004:Ckap5 UTSW 2 91,437,891 (GRCm39) missense possibly damaging 0.91
R2143:Ckap5 UTSW 2 91,396,090 (GRCm39) missense probably benign 0.00
R2391:Ckap5 UTSW 2 91,416,214 (GRCm39) missense possibly damaging 0.66
R2435:Ckap5 UTSW 2 91,411,490 (GRCm39) missense probably benign 0.01
R2438:Ckap5 UTSW 2 91,425,753 (GRCm39) missense possibly damaging 0.95
R2680:Ckap5 UTSW 2 91,419,043 (GRCm39) missense probably benign
R2698:Ckap5 UTSW 2 91,408,426 (GRCm39) missense probably damaging 1.00
R3420:Ckap5 UTSW 2 91,400,597 (GRCm39) missense probably damaging 0.99
R3422:Ckap5 UTSW 2 91,400,597 (GRCm39) missense probably damaging 0.99
R3696:Ckap5 UTSW 2 91,450,511 (GRCm39) missense probably benign 0.15
R3698:Ckap5 UTSW 2 91,450,511 (GRCm39) missense probably benign 0.15
R3877:Ckap5 UTSW 2 91,445,495 (GRCm39) missense possibly damaging 0.69
R4453:Ckap5 UTSW 2 91,379,190 (GRCm39) missense probably damaging 1.00
R4604:Ckap5 UTSW 2 91,408,476 (GRCm39) missense probably benign 0.00
R4605:Ckap5 UTSW 2 91,406,559 (GRCm39) missense probably damaging 1.00
R4849:Ckap5 UTSW 2 91,445,616 (GRCm39) missense probably damaging 1.00
R5267:Ckap5 UTSW 2 91,422,097 (GRCm39) missense probably null 1.00
R5367:Ckap5 UTSW 2 91,445,486 (GRCm39) missense possibly damaging 0.69
R5481:Ckap5 UTSW 2 91,402,792 (GRCm39) missense possibly damaging 0.62
R5546:Ckap5 UTSW 2 91,425,161 (GRCm39) missense probably damaging 1.00
R5704:Ckap5 UTSW 2 91,406,548 (GRCm39) missense probably damaging 1.00
R5786:Ckap5 UTSW 2 91,446,641 (GRCm39) splice site probably null
R5793:Ckap5 UTSW 2 91,450,180 (GRCm39) missense possibly damaging 0.74
R5824:Ckap5 UTSW 2 91,389,481 (GRCm39) missense probably benign 0.34
R5841:Ckap5 UTSW 2 91,431,027 (GRCm39) missense probably benign 0.05
R5875:Ckap5 UTSW 2 91,391,206 (GRCm39) missense probably benign
R5935:Ckap5 UTSW 2 91,445,445 (GRCm39) missense possibly damaging 0.68
R6008:Ckap5 UTSW 2 91,393,334 (GRCm39) missense probably damaging 0.99
R6174:Ckap5 UTSW 2 91,398,564 (GRCm39) missense probably benign 0.00
R6343:Ckap5 UTSW 2 91,426,819 (GRCm39) missense possibly damaging 0.95
R6624:Ckap5 UTSW 2 91,407,996 (GRCm39) missense probably benign 0.01
R6786:Ckap5 UTSW 2 91,387,920 (GRCm39) missense probably benign 0.01
R6793:Ckap5 UTSW 2 91,399,054 (GRCm39) missense probably damaging 1.00
R6841:Ckap5 UTSW 2 91,400,597 (GRCm39) missense probably damaging 0.99
R6972:Ckap5 UTSW 2 91,436,658 (GRCm39) missense probably damaging 0.98
R7044:Ckap5 UTSW 2 91,407,946 (GRCm39) missense probably benign
R7111:Ckap5 UTSW 2 91,437,917 (GRCm39) missense probably damaging 1.00
R7809:Ckap5 UTSW 2 91,436,702 (GRCm39) missense probably benign 0.28
R7921:Ckap5 UTSW 2 91,379,285 (GRCm39) missense probably damaging 0.96
R8125:Ckap5 UTSW 2 91,406,614 (GRCm39) missense probably damaging 1.00
R8331:Ckap5 UTSW 2 91,406,545 (GRCm39) missense probably damaging 1.00
R8342:Ckap5 UTSW 2 91,436,707 (GRCm39) missense possibly damaging 0.67
R8511:Ckap5 UTSW 2 91,445,492 (GRCm39) missense possibly damaging 0.95
R8708:Ckap5 UTSW 2 91,425,823 (GRCm39) missense probably benign 0.03
R8946:Ckap5 UTSW 2 91,409,861 (GRCm39) missense probably benign 0.44
R8982:Ckap5 UTSW 2 91,437,923 (GRCm39) missense possibly damaging 0.68
R9113:Ckap5 UTSW 2 91,426,144 (GRCm39) missense probably damaging 1.00
R9161:Ckap5 UTSW 2 91,445,653 (GRCm39) missense probably benign
R9238:Ckap5 UTSW 2 91,399,027 (GRCm39) missense probably null 0.10
R9339:Ckap5 UTSW 2 91,396,100 (GRCm39) missense probably benign
R9571:Ckap5 UTSW 2 91,387,953 (GRCm39) missense probably damaging 1.00
R9718:Ckap5 UTSW 2 91,379,177 (GRCm39) missense probably benign 0.10
X0010:Ckap5 UTSW 2 91,426,854 (GRCm39) missense possibly damaging 0.61
Z1177:Ckap5 UTSW 2 91,416,143 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCCCTCATTAACTATGGTTTTGCC -3'
(R):5'- CATCAAGACCGTAAGCTATCAATG -3'

Sequencing Primer
(F):5'- TCTACAGAGTGAGTTCCAGGAC -3'
(R):5'- GAGGACACCAATGCTGAA -3'
Posted On 2019-11-26